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| DDG2P v3.12 | GRIN1 | Achchuthan Shanmugasundram reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164704, 34611970, 28051072, 23934111, 26350515, 35393335; Phenotypes: GRIN1-associated Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, OMIM:617820, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRIN1 |
Achchuthan Shanmugasundram Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRIN1 were updated from 23934111; 27164704 to 27164704; 35393335; 34611970; 23934111; 26350515; 28051072 |
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| DDG2P v2.44 | GRIN1 | Sarah Leigh changed review comment from: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype.; to: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1357), and only one biallelic case has been reported with this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.44 | GRIN1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.44 | GRIN1 | Sarah Leigh Added comment: Comment on phenotypes: EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.44 | GRIN1 | Sarah Leigh Phenotypes for gene: GRIN1 were changed from EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.43 | GRIN1 | Sarah Leigh Added comment: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.43 | GRIN1 | Sarah Leigh Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN1 | Rebecca Foulger reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GRIN1 |
Rebecca Foulger gene: GRIN1 was added gene: GRIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN1 were set to 23934111; 27164704 Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GRIN1 was set to Other - please provide details in the comments |
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